Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P545insFs

TSC1

1,786 papers

RefSeq Summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin...

Pfam Domains

Hamartinaa 7–71UCSCHamartin protein
Hamartinaa 7–719UCSCHamartin protein

Gene Aliases

HGNC Name

TSC complex subunit 1

HGNC Alias Symbols

KIAA0243; LAM; hamartin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000368.5
p.P545insFs
c.1634dupC
Surrounding Variants
1 paper
NM_000368.5
p.P545delFs
c.1634delG
1 paper
NM_000368.5
p.D546Y
c.1636G>T
1 paper
NM_000368.5
p.P545fs
c.1633_1634fs
1 paper
NM_000368.5
p.P545insFs
c.1633_1634insT
1 paper
NM_000368.5
p.D546fs
c.1636_1637fs
1 paper
NM_000368.5
p.G544A
c.1631G>C
11 papers
NM_000368.5
p.G544E
c.1631G>A
1 paper
NM_000368.5
p.G544fs
c.1630_1631fs
1 paper
NM_000368.5
p.T547insFs
c.1639dupA
1 paper
NM_000368.5
p.T547K
c.1640C>A
1 paper
NM_000368.5
p.L543delFs
c.1627delG
3 papers
NM_000368.5
p.P548fs
c.1642_1643fs
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